Results 21 to 30 of about 15,356 (198)

Nemaline myopathies: a current view [PDF]

, 2019
Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inherited mutations in at least twelve genes. The genes encoding skeletal α-actin (ACTA1) and nebulin (NEB) are the commonest genetic cause.
Laitila, Jenni M., Wallgren-Pettersson, Carina, Sewry, Caroline A.   +2 more
core   +1 more source

Case Report: Monoclonal Gammopathies of Clinical Significance-Associated Myopathy: A Case-Based Review

Frontiers in Oncology, 2022
Monoclonal gammopathies of clinical significance (MGCS)-associated myopathy is a group of muscular MGCS-based rare manifestations. It mainly includes amyloid light chain (AL) amyloidosis and sporadic late-onset nemaline myopathy with monoclonal ...
Hongbin Yu, Du He, Qing Zhang, Bei Cao, Weiping Liu, Yu Wu   +5 more
doaj   +1 more source

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

Molecular Genetics & Genomic Medicine, 2020
Background Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy.
Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher H. C. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Kelvin Y. K. Chan, Sophelia H. S. Chan, Anita S. Y. Kan, Brian H. Y. Chung   +17 more
doaj   +1 more source

Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre

BMC Pediatrics, 2022
Background Congenital myopathies are a group of rare neuromuscular diseases characterized by specific histopathological features. The relationship between the pathologies and the genetic causes is complex, and the prevalence of myopathy-causing genes ...
Yu Zhang, Hui Yan, Jieyu Liu, Huifang Yan, Yinan Ma, Cuijie Wei, Zhaoxia Wang, Hui Xiong, Xingzhi Chang   +8 more
doaj   +1 more source

Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report

BMC Musculoskeletal Disorders, 2019
Background Camptocormia has been reported in a plethora of diseases comprising disorders of the central nervous system, the peripheral nervous system, and the neuromuscular junction as well as hereditary and acquired myopathies.
Matthias Türk, Armin M. Nagel, Frank Roemer, Ursula Schlötzer-Schrehardt, Christian T. Thiel, Martin Winterholler, Rolf Schröder   +6 more
doaj   +1 more source

A national registry for juvenile dermatomyositis and other paediatric idiopathic inflammatory myopathies: 10 years' experience; the Juvenile Dermatomyositis National (UK and Ireland) Cohort Biomarker Study and Repository for Idiopathic Inflammatory Myopathies [PDF]

, 2010
Objectives: The paediatric idiopathic inflammatory myopathies (IIMs) are a group of rare chronic inflammatory disorders of childhood, affecting muscle, skin and other organs.
Juvenile Dermatomyositis Research Group, Martin, N, Lucy R. Wedderburn, Sally Smith, Davidson, J.E., Wedderburn, L.R., Smith, S., Neil Martin, Pilkington, C.A., Gardner-Medwin, J. [JD Research Group], Joyce E. Davidson, Krol, P., Petra Krol, Murray, K., Kevin Murray, Clarissa A. Pilkington   +15 more
core   +1 more source

Actin Polymerization Defects Induce Mitochondrial Dysfunction in Cellular Models of Nemaline Myopathies

Antioxidants, 2023
Nemaline myopathy (NM) is one of the most common forms of congenital myopathy and it is identified by the presence of “nemaline bodies” (rods) in muscle fibers by histopathological examination.
Rocío Piñero-Pérez, Alejandra López-Cabrera, Mónica Álvarez-Córdoba, Paula Cilleros-Holgado, Marta Talaverón-Rey, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, David Gómez-Fernández, Diana Reche-López, Ana Romero-González, José Manuel Romero-Domínguez, Rocío M. de Pablos, José A. Sánchez-Alcázar   +12 more
doaj   +1 more source

Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration. [PDF]

PLoS ONE, 2015
Congenital myopathies are rare skeletal muscle diseases presenting in early age with hypotonia and weakness often linked to a genetic defect. Mutations in the gene for cofilin-2 (CFL2) have been identified in several families as a cause of congenital ...
Sarah U Morton, Mugdha Joshi, Talia Savic, Alan H Beggs, Pankaj B Agrawal   +4 more
doaj   +1 more source

Congenital myopathies: The current status

Indian Journal of Pathology and Microbiology, 2022
Within the history of neuromuscular diseases (NMD), congenital myopathies (CM) represent a relatively new category introduced in the mid-nineteen hundreds upon advent and subsequent application of enzyme histochemistry and electron microscopy by ...
Hans H Goebel, Carsten Dittmayer, Werner Stenzel   +2 more
doaj   +1 more source

SEQUENCE VARIANTS IN THE RYR1 GENE AND GENETIC DISEASES: MALIGNANT HYPERTHERMIA AND CONGENITAL MYOPATHIES [PDF]

, 2009
This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
core   +1 more source